1 |
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family.
54
57
6
61
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Wollnik B...Yuksel-Apak M
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12668170 |
2002 |
2 |
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.
61
6
57
54
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Bamshad M...Jorde LB
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9207801 |
1997 |
3 |
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.
6
57
61
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Tanteles GA...Skordis N
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28145909 |
2017 |
4 |
Ulnar Mammary syndrome and TBX3: expanding the phenotype.
6
57
61
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Linden H...Kini U
|
19938096 |
2009 |
5 |
Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development.
57
6
61
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Sasaki G...Matsuo N
|
12116211 |
2002 |
6 |
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
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54
61
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Klopocki E...Ullmann R
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16896345 |
2006 |
7 |
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
54
57
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Borozdin W...Kohlhase J
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16892408 |
2006 |
8 |
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome.
61
57
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Bamshad M...Carey JC
|
8923944 |
1996 |
9 |
A gene for ulnar-mammary syndrome maps to 12q23-q24.1.
61
57
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Bamshad M...Jorde LB
|
8595424 |
1995 |
10 |
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.
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61
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Franceschini P...Matarazzo P
|
1481852 |
1992 |
11 |
Ulnar-mammary syndrome.
61
57
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Schinzel A
|
3430557 |
1987 |
12 |
The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene.
61
57
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Schinzel A...Prader A
|
3621662 |
1987 |
13 |
The Schinzel syndrome in a mother and daughter.
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61
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Hecht JT...Scott CI
|
6538465 |
1984 |
14 |
Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister.
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61
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Gonzalez CH...Opitz JM
|
991870 |
1976 |
15 |
Laryngeal web, congenital heart disease and low stature. A syndrome?
57
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Gay I...Cohen T
|
7247825 |
1981 |
16 |
Transcription factor Tbx3 is required for the specification of the atrioventricular conduction system.
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61
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Bakker ML...Christoffels VM
|
18467625 |
2008 |
17 |
Tbx3 is a downstream target of the Wnt/beta-catenin pathway and a critical mediator of beta-catenin survival functions in liver cancer.
54
61
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Renard CA...Buendia MA
|
17283120 |
2007 |
18 |
Isl1Cre reveals a common Bmp pathway in heart and limb development.
61
54
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Yang L...Evans S
|
16556916 |
2006 |
19 |
TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines.
61
54
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Fan W...Huang T
|
15289316 |
2004 |
20 |
Interactions between FGF and Wnt signals and Tbx3 gene expression in mammary gland initiation in mouse embryos.
61
54
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Eblaghie MC...Jung HS
|
15255957 |
2004 |
21 |
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome.
61
54
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Davenport TG...Papaioannou VE
|
12668638 |
2003 |
22 |
T-box genes in human disorders.
61
54
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Packham EA...Brook JD
|
12668595 |
2003 |
23 |
Regulation of Tbx3 expression by anteroposterior signalling in vertebrate limb development.
61
54
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Tumpel S...Tickle C
|
12376101 |
2002 |
24 |
Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome.
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61
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Coll M...Muller CW
|
12005433 |
2002 |
25 |
A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome.
61
54
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Carlson H...Hurlin PJ
|
11689487 |
2001 |
26 |
Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome.
54
61
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He Ml...Rao Y
|
10468588 |
1999 |
27 |
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.
54
61
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Bamshad M...Jorde LB
|
10330342 |
1999 |
28 |
Isolation of a Drosophila T-box gene closely related to human TBX1.
61
54
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Porsch M...Pflugfelder GO
|
9611267 |
1998 |
29 |
[Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].
61
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Liang YT...Fu HY
|
33059814 |
2020 |
30 |
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
61
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Kato K...Saitoh S
|
31712251 |
2020 |
31 |
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
61
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Assoum M...Faivre L
|
31953988 |
2020 |
32 |
The roles and regulation of TBX3 in development and disease.
61
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Khan SF...Prince S
|
31669645 |
2020 |
33 |
Ritscher-Schinzel Syndrome
61
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Elliott AM...Chudley A
|
31971710 |
2020 |
34 |
A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome.
61
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Al-Qattan MM...Alkuraya FS
|
30654152 |
2020 |
35 |
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome.
61
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Galazzi E...Bonati MT
|
30550377 |
2018 |
36 |
Loss of Tbx3 in murine neural crest reduces enteric glia and causes cleft palate, but does not influence heart development or bowel transit.
61
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Lopez SH...Heuckeroth RO
|
30292786 |
2018 |
37 |
Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.
61
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Zlotina A...Kostareva A
|
29963074 |
2018 |
38 |
The T-Box transcription factor 3 in development and cancer.
61
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Willmer T...Prince S
|
28579578 |
2017 |
39 |
[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].
61
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Pira-Paredes SM...Cornejo JW
|
28555453 |
2017 |
40 |
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3.
61
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Colasanto MP...Kardon G
|
27491074 |
2016 |
41 |
Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes.
61
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Iwanicka-Pronicka K...Jamsheer A
|
27722056 |
2016 |
42 |
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
61
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Kolanczyk M...Horn D
|
24916641 |
2015 |
43 |
3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst.
61
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Sargar KM...Siegel MJ
|
25712599 |
2015 |
44 |
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus.
61
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Konya MN...Yesil M
|
25434475 |
2015 |
45 |
The T-Box factor TBX3 is important in S-phase and is regulated by c-Myc and cyclin A-CDK2.
61
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Willmer T...Prince S
|
26266831 |
2015 |
46 |
Short communication: Expression of T-box 2 and 3 in the bovine mammary gland.
61
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Hoffman ML...Govoni KE
|
24767885 |
2014 |
47 |
Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.
61
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Bogarapu S...Frank DU
|
24664963 |
2014 |
48 |
Ulnar mammary syndrome.
61
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Ramirez RN...Kozin SH
|
24679913 |
2014 |
49 |
TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome.
61
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Kumar P P...Moon AM
|
24675841 |
2014 |
50 |
Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment.
61
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Loyal J...Laub DR
|
25328580 |
2014 |